Perampanel attenuates myoclonus in a patient with neuronal ceroid lipofuscinoses type 2 disease

• Published in: Brain & development (Tokyo. 1979) 2019-10, Vol.41 (9), p.817-819
• Main Authors: Wong, Lee Chin, Hsu, Chia-Jui, Lee, Wang-Tso
• Format: Article
• Language: English
• Subjects: Aminopeptidases - genetics; Anticonvulsants - therapeutic use; Antiepileptic medication; Child; Dipeptidyl-Peptidases and Tripeptidyl-Peptidases - genetics; Female; Humans; Mutation; Myoclonus; Myoclonus - diagnostic imaging; Myoclonus - drug therapy; Myoclonus - genetics; Myoclonus - physiopathology; Neuronal ceroid lipofuscinoses type 2 disease; Neuronal Ceroid-Lipofuscinoses - diagnostic imaging; Neuronal Ceroid-Lipofuscinoses - drug therapy; Neuronal Ceroid-Lipofuscinoses - genetics; Neuronal Ceroid-Lipofuscinoses - physiopathology; Perampanel; Pyridones - therapeutic use; Serine Proteases - genetics
• ISSN: 0387-7604; 1872-7131
• DOI: 10.1016/j.braindev.2019.05.001

Neuronal ceroid lipofuscinoses type 2 disease (CLN2) is a very rare, autosomal recessive neurodegerative disease caused by deficient activity of the enzyme tripeptidyl peptidase 1 (TPP1). The seizures in CLN2 are polymorphic and resistant to antiepileptic drugs. In particular, myoclonus (epileptic and non-epileptic) predominant as the disease progresses. Herein, we present a child of CLN2 disease, who had near-continuous myoclonus, and was subsequently attenuated by administration of Perampanel. This girl had initially presented with language delay and generalized tonic clonic seizure at 3 years of age. The diagnosis of CLN2 was made via genetic study, which showed compound heterozygous mutation on TPP1 gene (c.622 C > T and partial gene deletion including at least exons 1–3). Currently, at the age of 8 years, there was near-continuous myoclonus (epileptic and non-epileptic), which worsen during acute illness. Eventually, she was given Perampanel with starting dose of 1 mg/day and slowly titrated upto 6 mg/day in 4 weeks. There was significant attenuation of myoclonus (>50% seizure reduction). To our knowledge, this is the first case in the literature describing the efficacy of perampanel in treating myoclonus in CLN2 disease.